MCID: CRN139
MIFTS: 42

Cornelia De Lange Syndrome 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 54 71 29 13
Amstelodamensis Typus Degenerativus 71
Cdls1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
many cases due to de novo mutation or chromosome aberration
empiric risk for a sib of an affected child between 2 and 5%
prevalence of 0.6 to 10 per 100,000 individuals


HPO:

32
cornelia de lange syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Cornelia De Lange Syndrome 1

OMIM : 54
The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010). Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. (122470)

MalaCards based summary : Cornelia De Lange Syndrome 1, also known as amstelodamensis typus degenerativus, is related to nipbl-related cornelia de lange syndrome and cornelia de lange syndrome 2, and has symptoms including short stature, long eyelashes and optic atrophy. An important gene associated with Cornelia De Lange Syndrome 1 is NIPBL (NIPBL, Cohesin Loading Factor). The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and heart.

UniProtKB/Swiss-Prot : 71 Cornelia de Lange syndrome 1: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

Related Diseases for Cornelia De Lange Syndrome 1

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 1:



Diseases related to Cornelia De Lange Syndrome 1

Symptoms & Phenotypes for Cornelia De Lange Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
prenatal growth retardation
specific growth curves are available

Neurologic- Central Nervous System:
mental retardation
language delay
hypertonicity

Head And Neck- Eyes:
myopia
ptosis
synophrys
long curly eyelashes

Head And Neck- Ears:
low-set ears
sensorineural hearing loss
conductive hearing loss to due otitis media

Abdomen- Gastroin testinal:
gastroesophageal reflux
pyloric stenosis

Skeletal- Hands:
fifth finger clinodactyly
oligodactyly
single transverse palmar crease
proximally placed thumbs

Head And Neck- Mouth:
thin upper lip
downturned corners of the mouth
cleft lip/palate
high arched palate

Neurologic- Behavioral Psychiatric Manifestations:
self-injurious behavior

Cardiovascular- Heart:
congenital heart defect

Skeletal- Limbs:
limited elbow extension
dislocation of the radial head
phocomelia

Genitourinary- External Genitalia Male:
hypoplastic male genitalia

Skeletal- Feet:
syndactyly of toes 2 and 3

Head And Neck- Nose:
anteverted nostrils
depressed nasal bridge

Skin Nails & Hair- Hair:
hirsutism
low posterior hair line

Head And Neck- Head:
microcephaly
brachycephaly

Head And Neck- Face:
micrognathia
long philtrum

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Neck:
short neck

Skin Nails & Hair- Skin:
cutis marmorata
single transverse palmar crease

Respiratory- Lung:
pneumonia
congenital diaphragmatic hernia

Head And Neck- Teeth:
widely spaced teeth
late-erupting teeth

Chest- Breasts:
small nipples

Genitourinary- Kidneys:
structural anomalies of the renal tract
absent/poor corticomedullary differentiation (some patients)
pelvic dilation (some patients)
vesicoureteral reflux (rare)
small kidney (rare)
more
Voice:
low-pitched, growling cry in infancy


Clinical features from OMIM:

122470

Human phenotypes related to Cornelia De Lange Syndrome 1:

32 (show top 50) (show all 80)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 long eyelashes 32 HP:0000527
3 optic atrophy 32 HP:0000648
4 nystagmus 32 HP:0000639
5 hirsutism 32 HP:0001007
6 strabismus 32 HP:0000486
7 myopia 32 HP:0000545
8 seizures 32 HP:0001250
9 hypertonia 32 HP:0001276
10 ptosis 32 HP:0000508
11 microcephaly 32 HP:0000252
12 low-set ears 32 HP:0000369
13 thrombocytopenia 32 HP:0001873
14 proteinuria 32 occasional (7.5%) HP:0000093
15 micrognathia 32 HP:0000347
16 depressed nasal bridge 32 HP:0005280
17 proptosis 32 HP:0000520
18 intrauterine growth retardation 32 HP:0001511
19 choanal atresia 32 HP:0000453
20 cleft palate 32 HP:0000175
21 hypospadias 32 HP:0000047
22 anteverted nares 32 HP:0000463
23 microcornea 32 HP:0000482
24 gastroesophageal reflux 32 HP:0002020
25 hypoplastic labia majora 32 HP:0000059
26 cryptorchidism 32 HP:0000028
27 short neck 32 HP:0000470
28 cutis marmorata 32 HP:0000965
29 inguinal hernia 32 HP:0000023
30 intellectual disability 32 HP:0001249
31 ventricular septal defect 32 HP:0001629
32 long philtrum 32 HP:0000343
33 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
34 synophrys 32 HP:0000664
35 brachycephaly 32 HP:0000248
36 elbow flexion contracture 32 HP:0002987
37 astigmatism 32 HP:0000483
38 self-injurious behavior 32 HP:0100716
39 renal hypoplasia 32 occasional (7.5%) HP:0000089
40 low posterior hairline 32 HP:0002162
41 pneumonia 32 HP:0002090
42 micromelia 32 HP:0002983
43 widely spaced teeth 32 HP:0000687
44 hypoplastic nipples 32 HP:0002557
45 limited elbow extension 32 HP:0001377
46 delayed skeletal maturation 32 HP:0002750
47 downturned corners of mouth 32 HP:0002714
48 weak cry 32 HP:0001612
49 sensorineural hearing impairment 32 HP:0000407
50 supernumerary ribs 32 HP:0005815

Drugs & Therapeutics for Cornelia De Lange Syndrome 1

Drugs for Cornelia De Lange Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Agents Phase 2, Phase 3
3 Adrenergic Antagonists Phase 2, Phase 3
4 Adrenergic beta-Antagonists Phase 2, Phase 3
5 Anti-Arrhythmia Agents Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9 Cola Nutraceutical Phase 3
10
Ciprofloxacin Approved, Investigational 85721-33-1 2764
11
Amiodarone Approved, Investigational 1951-25-3 2157
12
Digoxin Approved 20830-75-5 30322 2724385
13
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
14
Verapamil Approved 52-53-9 2520
15 Anti-Bacterial Agents
16 Anti-Infective Agents
17 Cystatins
18 Cytochrome P-450 CYP1A2 Inhibitors
19 Cytochrome P-450 Enzyme Inhibitors
20 Topoisomerase Inhibitors
21 Adrenergic beta-1 Receptor Antagonists
22 Autonomic Agents
23 calcium channel blockers
24 Calcium, Dietary
25 Cytochrome P-450 CYP2C9 Inhibitors
26 Cytochrome P-450 CYP2D6 Inhibitors
27 Cytochrome P-450 CYP3A Inhibitors
28 Diuretics, Potassium Sparing
29 Peripheral Nervous System Agents
30 Potassium Channel Blockers
31 Protective Agents
32 Sodium Channel Blockers
33 Sympatholytics
34 leucine Nutraceutical

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
3 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Enrolling by invitation NCT01538550 Phase 3
4 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
5 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
6 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
7 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
10 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920
11 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 Pharmacological cardioversion - Flecainide;Metoprolol;Verapamil;Digoxin;Pharmacological cardioversion - Amiodarone

Search NIH Clinical Center for Cornelia De Lange Syndrome 1

Genetic Tests for Cornelia De Lange Syndrome 1

Genetic tests related to Cornelia De Lange Syndrome 1:

id Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 1 29

Anatomical Context for Cornelia De Lange Syndrome 1

MalaCards organs/tissues related to Cornelia De Lange Syndrome 1:

39
Kidney, Colon, Heart

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

id Title Authors Year
1
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. ( 19522788 )
2009

Variations for Cornelia De Lange Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 1:

71 (show all 38)
id Symbol AA change Variation ID SNP ID
1 NIPBL p.Cys1311Arg VAR_019519
2 NIPBL p.Leu1348Arg VAR_019520
3 NIPBL p.Tyr2430Cys VAR_019521 rs121918265
4 NIPBL p.Ala1246Gly VAR_021598 rs121918268
5 NIPBL p.Leu1312Pro VAR_021599
6 NIPBL p.Arg1789Leu VAR_021600
7 NIPBL p.Asp1803Val VAR_021601
8 NIPBL p.Arg1856Thr VAR_021602
9 NIPBL p.Arg2298Cys VAR_021603 rs80358376
10 NIPBL p.Arg2298His VAR_021604 rs587784024
11 NIPBL p.Gly2312Arg VAR_021605
12 NIPBL p.Gly2381Ala VAR_021606
13 NIPBL p.Ala2390Thr VAR_021607 rs587784036
14 NIPBL p.Tyr2440His VAR_021608
15 NIPBL p.Gly2081Ala VAR_064545
16 NIPBL p.Ser2090Ile VAR_064546
17 NIPBL p.Leu2150Pro VAR_064547
18 NIPBL p.Gly15Arg VAR_072996
19 NIPBL p.Pro29Gln VAR_072997
20 NIPBL p.Asn70Ile VAR_072998
21 NIPBL p.Ser111Thr VAR_073000
22 NIPBL p.Ala179Ser VAR_073001
23 NIPBL p.Ala179Thr VAR_073002 rs142923613
24 NIPBL p.Pro192Leu VAR_073003
25 NIPBL p.Asp246Gly VAR_073004 rs587784042
26 NIPBL p.Leu254Val VAR_073005
27 NIPBL p.Pro351Thr VAR_073006
28 NIPBL p.Lys357Asn VAR_073007
29 NIPBL p.Arg868Gln VAR_073008 rs149629686
30 NIPBL p.Glu1207Lys VAR_073009
31 NIPBL p.His1343Pro VAR_073010
32 NIPBL p.Val1441Leu VAR_073011 rs727503769
33 NIPBL p.Val1625Phe VAR_073012
34 NIPBL p.Ile1637Leu VAR_073013
35 NIPBL p.Asn1722His VAR_073014
36 NIPBL p.Cys2091Phe VAR_073015
37 NIPBL p.Gly2312Val VAR_073017 rs587784025
38 NIPBL p.Asp2433Asn VAR_073018

ClinVar genetic disease variations for Cornelia De Lange Syndrome 1:

6 (show top 50) (show all 247)
id Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NIPBL, 1-BP INS, 1546G insertion Pathogenic
2 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh37 Chromosome 5, 36953800: 36953800
3 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh37 Chromosome 5, 37057313: 37057313
4 NIPBL NIPBL, 1-BP DEL, 150G deletion Pathogenic
5 NIPBL NIPBL, 1-BP INS, 7306G insertion Pathogenic
6 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
7 NIPBL NIPBL, 2-BP DEL, 2479AG deletion Pathogenic
8 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
9 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
10 NIPBL NIPBL, IVS45AS, G-C, -1 single nucleotide variant Pathogenic
11 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
12 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
13 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
14 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
15 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
16 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
17 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
18 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
19 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
20 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
21 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
22 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
23 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
24 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
25 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
26 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
27 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
28 NIPBL NM_133433.3(NIPBL): c.5366G> A (p.Arg1789Gln) single nucleotide variant Likely pathogenic rs80358380 GRCh37 Chromosome 5, 37022190: 37022190
29 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh37 Chromosome 5, 37022374: 37022374
30 NIPBL NM_133433.3(NIPBL): c.5566A> G (p.Arg1856Gly) single nucleotide variant Likely pathogenic rs80358373 GRCh37 Chromosome 5, 37022484: 37022484
31 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh37 Chromosome 5, 36962351: 36962351
32 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh37 Chromosome 5, 37048645: 37048645
33 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh37 Chromosome 5, 37048655: 37048661
34 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
35 NIPBL NM_133433.3(NIPBL): c.7301A> G (p.Asn2434Ser) single nucleotide variant Likely pathogenic rs80358384 GRCh37 Chromosome 5, 37057325: 37057325
36 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh37 Chromosome 5, 37057351: 37057351
37 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh37 Chromosome 5, 37061049: 37061049
38 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh37 Chromosome 5, 37061066: 37061066
39 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
40 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
41 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
42 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh37 Chromosome 5, 36953867: 36953867
43 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Likely pathogenic rs587784012 GRCh37 Chromosome 5, 36955569: 36955569
44 NIPBL NM_015384.4(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
45 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh38 Chromosome 5, 36955552: 36955552
46 NIPBL NM_015384.4(NIPBL): c.201_212delTAGCCTCAACCA (p.His67_Asn70del) deletion Likely pathogenic rs587783893 GRCh38 Chromosome 5, 36955608: 36955619
47 NIPBL NM_133433.3(NIPBL): c.206T> C (p.Leu69Pro) single nucleotide variant Likely pathogenic rs587783895 GRCh38 Chromosome 5, 36955613: 36955613
48 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh38 Chromosome 5, 36958183: 36958190
49 NIPBL NM_133433.3(NIPBL): c.345A> G (p.Arg115=) single nucleotide variant Likely pathogenic rs587783922 GRCh37 Chromosome 5, 36958320: 36958320
50 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh37 Chromosome 5, 36958334: 36958334

Expression for Cornelia De Lange Syndrome 1

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 1.

Pathways for Cornelia De Lange Syndrome 1

GO Terms for Cornelia De Lange Syndrome 1

Cellular components related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 MLL1 complex GO:0071339 8.62 KMT2A TAF6

Biological processes related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 8.96 KMT2A NIPBL
2 cognition GO:0050890 8.62 KMT2A NIPBL

Sources for Cornelia De Lange Syndrome 1

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10 dbSNP
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